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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-49682960-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49682960&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "APEH",
"hgnc_id": 586,
"hgvs_c": "c.1986+15C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001640.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 885845,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 732,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": null,
"cds_end": null,
"cds_length": 2199,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001640.4",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1986+15C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000296456.10",
"protein_coding": true,
"protein_id": "NP_001631.3",
"strand": true,
"transcript": "NM_001640.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 732,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": null,
"cds_end": null,
"cds_length": 2199,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296456.10",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1986+15C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001640.4",
"protein_coding": true,
"protein_id": "ENSP00000296456.5",
"strand": true,
"transcript": "ENST00000296456.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 737,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": null,
"cds_end": null,
"cds_length": 2214,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438011.5",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.2001+15C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415862.1",
"strand": true,
"transcript": "ENST00000438011.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 759,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": null,
"cds_end": null,
"cds_length": 2280,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863169.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.2067+15C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533228.1",
"strand": true,
"transcript": "ENST00000863169.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 740,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": null,
"cds_end": null,
"cds_length": 2223,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863165.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.2010+15C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533224.1",
"strand": true,
"transcript": "ENST00000863165.1",
"transcript_support_level": null
},
{
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"aa_length": 729,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": null,
"cds_end": null,
"cds_length": 2190,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863163.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1977+15C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533222.1",
"strand": true,
"transcript": "ENST00000863163.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 729,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": null,
"cds_end": null,
"cds_length": 2190,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863172.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1977+15C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533231.1",
"strand": true,
"transcript": "ENST00000863172.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 725,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": null,
"cds_end": null,
"cds_length": 2178,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863166.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1986+15C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533225.1",
"strand": true,
"transcript": "ENST00000863166.1",
"transcript_support_level": null
},
{
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"aa_length": 722,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000959864.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1977+15C>G",
"hgvs_p": null,
"intron_rank": 20,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629923.1",
"strand": true,
"transcript": "ENST00000959864.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "ENST00000863164.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1953+15C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533223.1",
"strand": true,
"transcript": "ENST00000863164.1",
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},
{
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],
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"feature": "ENST00000925195.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1941+15C>G",
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"mane_plus": null,
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"strand": true,
"transcript": "ENST00000925195.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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],
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"feature": "ENST00000863160.1",
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},
{
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],
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"protein_coding": true,
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},
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"consequences": [
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],
"exon_count": 21,
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"feature": "ENST00000863170.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1905+15C>G",
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"intron_rank": 19,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533229.1",
"strand": true,
"transcript": "ENST00000863170.1",
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},
{
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],
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"feature": "ENST00000863161.1",
"gene_hgnc_id": 586,
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"protein_id": "ENSP00000533220.1",
"strand": true,
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},
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],
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"feature": "ENST00000863158.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533217.1",
"strand": true,
"transcript": "ENST00000863158.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000863162.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1881+15C>G",
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"mane_plus": null,
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"protein_id": "ENSP00000533221.1",
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},
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],
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"feature": "ENST00000925196.1",
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},
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],
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"feature": "ENST00000863167.1",
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},
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],
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"feature": "ENST00000959868.1",
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"hgvs_c": "c.1851+15C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629927.1",
"strand": true,
"transcript": "ENST00000959868.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000863157.1",
"gene_hgnc_id": 586,
"gene_symbol": "APEH",
"hgvs_c": "c.1848+15C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533216.1",
"strand": true,
"transcript": "ENST00000863157.1",
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},
{
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"cds_end": null,
"cds_length": 2040,
"cds_start": null,
"consequences": [
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